Left Ventricular Noncompaction Cardiomyopathy in Association with Trisomy 13
Colin J. McMahonAnthony ChangRicardo H. PignatelliWanda C. Miller‐HanceB.K. EbleJeffrey A. TowbinSusan W. Denfield
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Left ventricular noncompaction
Trisomy
Presentation (obstetrics)
Left ventricular non-compaction (LVNC) cardiomyopathy is an uncommon unclassified or genetic myocardial disorder. Frequent premature ventricular complexes (PVCs) as unique finding in LVNC cardiomyopathy are rare. We report a case of a 36-year-old woman in whom isolated LVNC was diagnosed due to an incidental finding of PVCs in pre-operative consultation.
Left ventricular noncompaction
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Background— Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield. Methods and Results— One hundred twenty-eight individuals diagnosed with LVNC at ≤21 years of age were identified, including 59% with idiopathic etiology, 32% with familial disease, and 9% with a syndromic or metabolic diagnosis. Overall, 75 individuals had either cardiomyopathy gene panel (n=65) or known variant testing (n=10). The yield of cardiomyopathy gene panel testing was 9%. The severity of LVNC by imaging criteria was not associated with positive genetic testing, co-occurring cardiac features, etiology, family history, or myocardial dysfunction. Individuals with isolated LVNC were significantly less likely to have a positive genetic testing result compared with those with LVNC and co-occurring cardiomyopathy (0% versus 12%, respectively; P <0.01). Conclusions— Genetic testing should be considered in individuals with cardiomyopathy co-occurring with LVNC. These data do not suggest an indication for cardiomyopathy gene panel testing in individuals with isolated LVNC in the absence of a family history of cardiomyopathy.
Left ventricular noncompaction
Etiology
Dilated Cardiomyopathy
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DTNA encoding dystrobrevin-α (α-DB) is a putative causal gene associated with left ventricular noncompaction cardiomyopathy (LVNC). The aim of the study was to investigate the causal role of DTNA in LVNC using a transgenic mouse model.
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Left ventricular non-compaction, often known as LVNC, is a form of congenital cardiomyopathy that is extremely uncommon. It is a condition that may be identified by an elevated number of endomyocardial trabeculations as well as an increase in their prominence. Alcoholic cardiomyopathy, also known as ACM, is a non-ischemic form of dilated cardiomyopathy that is characterized by contractile failure and an enlargement of the heart ventricles. It is not entirely known whether or not there is a clinically significant overlap in phenotypic characteristics between the two illnesses. We report a patient who had previously been diagnosed with ACM and who had cardiac MRI (CMR) results that fit the criteria for both LVNC and ACM.
Left ventricular noncompaction
Alcoholic cardiomyopathy
Dilated Cardiomyopathy
Restrictive cardiomyopathy
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Left ventricular noncompaction
Congestive Cardiomyopathy
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Abstract Left ventricular non-compaction (LVNC) describes a ventricular wall anatomy, characterized by prominent left ventricular trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme. The trabecular configuration represents a type of individual dynamic 'cardioprinting'. On its own, the diagnosis of LVNC does not coincide with that of a 'cardiomyopathy' because it can be observed in healthy subjects with normal left ventricular size and function, and it can be acquired and reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy: the paradigmatic examples are infantile tafazzinopathies. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggest cautious use of the term LVNC cardiomyopathy, which describes the morphology, but not the functional profile of the cardiomyopathy or the associated congenital disease. Therefore, when associated with left ventricular dilation and dysfunction, hypertrophy, or congenital heart disease, the leading diagnosis is cardiomyopathy or congenital heart disease followed by the addition of the descriptor LVNC.
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Left ventricular noncompaction
Trisomy
Etiology
Heart defect
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Two patients with the fascinating disorder of left ventricular noncompaction cardiomyopathy are reported and illustrated echocardiographically. A review of this increasingly recognized cardiomyopathy that may be accompanied by considerable morbidity and mortality, has been done.
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Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy.The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children.This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing.Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients.The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.
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Dilated Cardiomyopathy
Restrictive cardiomyopathy
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Abstract Left ventricular non‐compaction (LVNC) cardiomyopathy is an uncommon unclassified or genetic myocardial disorder. Frequent premature ventricular complexes (PVCs) as unique finding in LVNC cardiomyopathy are rare. We report a case of a 36‐year‐old woman in whom isolated LVNC was diagnosed due to an incidental finding of PVCs in pre‐operative consultation.
Left ventricular noncompaction
Genetic disorder
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